ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.897C>T (p.Ala299=)

gnomAD frequency: 0.00001  dbSNP: rs747352043
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 RCV000866880 SCV001008038 likely benign Neuronal ceroid lipofuscinosis 7 2023-07-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004711325 SCV005256185 likely benign not provided criteria provided, single submitter not provided

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