ClinVar Miner

Submissions for variant NM_024642.5(GALNT12):c.1638A>G (p.Lys546=)

gnomAD frequency: 0.00001  dbSNP: rs771643059
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000471708 SCV000551410 likely benign not provided 2023-02-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV004022803 SCV001172840 likely benign not specified 2021-01-25 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000471708 SCV005623147 uncertain significance not provided 2023-11-16 criteria provided, single submitter clinical testing

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