ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.66A>G (p.Glu22=)

dbSNP: rs145529594
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000728730 SCV000856339 uncertain significance not provided 2017-08-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001402734 SCV001604586 likely benign Neuronal ceroid lipofuscinosis 7 2024-01-11 criteria provided, single submitter clinical testing

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