ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.300T>C (p.Tyr100=)

gnomAD frequency: 0.00001  dbSNP: rs754739634
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001396522 SCV001598253 likely benign Neuronal ceroid lipofuscinosis 7 2020-10-19 criteria provided, single submitter clinical testing

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