ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.1005C>A (p.Gly335=)

dbSNP: rs772735057
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000972006 SCV001119692 likely benign Neuronal ceroid lipofuscinosis 7 2024-01-10 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272734 SCV001454992 uncertain significance Late-infantile neuronal ceroid lipofuscinosis 2020-01-17 no assertion criteria provided clinical testing

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