ClinVar Miner

Submissions for variant NM_001082486.2(ACD):c.330C>A (p.Gly110=)

dbSNP: rs1214995325
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000930413 SCV001076066 likely benign Dyskeratosis congenita, autosomal dominant 6 2023-05-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV004029564 SCV005037501 likely benign Inborn genetic diseases 2023-09-25 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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