ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.54T>G (p.Pro18=)

gnomAD frequency: 0.00001  dbSNP: rs1243416801
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001421505 SCV001624029 likely benign Neuronal ceroid lipofuscinosis 7 2023-12-09 criteria provided, single submitter clinical testing
GeneDx RCV000868738 SCV001847490 likely benign not provided 2021-03-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002345993 SCV002652772 likely benign Inborn genetic diseases 2019-04-25 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.
Natera, Inc. RCV001273686 SCV001457016 uncertain significance Late-infantile neuronal ceroid lipofuscinosis 2020-03-17 no assertion criteria provided clinical testing

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