ClinVar Miner

Submissions for variant NM_020779.4(WDR35):c.1601G>A (p.Arg534Gln)

gnomAD frequency: 0.01206  dbSNP: rs113345685
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000313381 SCV000426032 likely benign Short-rib thoracic dysplasia 7 with or without polydactyly 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina RCV000370428 SCV000426033 likely benign Cranioectodermal dysplasia 2 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV000878017 SCV001020856 benign Cranioectodermal dysplasia 2; Short-rib thoracic dysplasia 7 with or without polydactyly 2025-01-29 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001555209 SCV001472558 benign not provided 2023-09-21 criteria provided, single submitter clinical testing
GeneDx RCV001555209 SCV001776585 likely benign not provided 2021-02-09 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001555209 SCV005260675 likely benign not provided criteria provided, single submitter not provided

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