ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.1320A>G (p.Leu440=)

gnomAD frequency: 0.00003  dbSNP: rs148864710
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001718847 SCV000513611 likely benign not provided 2020-12-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000556763 SCV000639420 likely benign Neuronal ceroid lipofuscinosis 7 2023-12-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002379299 SCV002689753 likely benign Inborn genetic diseases 2018-09-13 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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