ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.372C>T (p.Leu124=)

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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 RCV003601577 SCV004411423 likely benign Neuronal ceroid lipofuscinosis 7 2023-06-02 criteria provided, single submitter clinical testing

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