ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.1068T>C (p.Pro356=)

gnomAD frequency: 0.00002  dbSNP: rs376258320
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000861243 SCV001001500 likely benign Neuronal ceroid lipofuscinosis 7 2023-11-17 criteria provided, single submitter clinical testing
GeneDx RCV001585803 SCV001818742 likely benign not provided 2019-12-27 criteria provided, single submitter clinical testing
Natera, Inc. RCV001830861 SCV002084766 likely benign Late-infantile neuronal ceroid lipofuscinosis 2020-03-29 no assertion criteria provided clinical testing

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