ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.*265C>T

gnomAD frequency: 0.01600  dbSNP: rs78537620
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000382619 SCV000366897 likely benign Asphyxiating thoracic dystrophy 3 2017-04-27 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 RCV000288223 SCV000366898 likely benign Jeune thoracic dystrophy 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001642935 SCV001855410 benign not provided 2018-11-22 criteria provided, single submitter clinical testing

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