ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.975A>G (p.Leu325=)

gnomAD frequency: 0.00001  dbSNP: rs570989221
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000591840 SCV000706139 uncertain significance not provided 2017-02-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001078494 SCV001128087 likely benign Neuronal ceroid lipofuscinosis 7 2024-01-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV001835869 SCV002084775 likely benign Late-infantile neuronal ceroid lipofuscinosis 2020-12-22 no assertion criteria provided clinical testing

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