ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.755-6C>T

gnomAD frequency: 0.00001  dbSNP: rs752118814
Minimum review status: Collection method:
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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 RCV000932409 SCV001078091 likely benign Neuronal ceroid lipofuscinosis 7 2023-12-09 criteria provided, single submitter clinical testing
GeneDx RCV001565108 SCV001788385 likely benign not provided 2020-05-20 criteria provided, single submitter clinical testing

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