ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.1035C>T (p.Ile345=)

gnomAD frequency: 0.00001  dbSNP: rs141422574
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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
GeneDx RCV001721286 SCV000528036 likely benign not provided 2021-04-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002059651 SCV002394796 likely benign Neuronal ceroid lipofuscinosis 7 2023-06-02 criteria provided, single submitter clinical testing

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