ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.1351-6C>T

gnomAD frequency: 0.00001  dbSNP: rs1288349006
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001455392 SCV001659151 likely benign Neuronal ceroid lipofuscinosis 7 2021-10-15 criteria provided, single submitter clinical testing

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