ClinVar Miner

Submissions for variant NM_003816.3(ADAM9):c.226G>A (p.Glu76Lys)

gnomAD frequency: 0.00344  dbSNP: rs61753672
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000177178 SCV000229011 likely benign not specified 2014-10-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000971899 SCV001119577 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001160366 SCV001322162 likely benign Cone-rod dystrophy 9 2017-07-11 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.
Breakthrough Genomics, Breakthrough Genomics RCV000971899 SCV005223426 likely benign not provided criteria provided, single submitter not provided

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