ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.315G>A (p.Glu105=)

gnomAD frequency: 0.00001  dbSNP: rs1740610356
Minimum review status: Collection method:
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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 RCV002122287 SCV002400038 likely benign Neuronal ceroid lipofuscinosis 7 2023-12-26 criteria provided, single submitter clinical testing

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