ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.978A>G (p.Gly326=)

gnomAD frequency: 0.00004  dbSNP: rs138219028
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002317616 SCV000851210 likely benign Inborn genetic diseases 2016-08-30 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000866824 SCV001007969 likely benign Neuronal ceroid lipofuscinosis 7 2024-01-02 criteria provided, single submitter clinical testing
GeneDx RCV001571258 SCV001795693 likely benign not provided 2019-01-31 criteria provided, single submitter clinical testing

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