ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.199-12C>A

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003601867 SCV004548376 likely benign Neuronal ceroid lipofuscinosis 7 2024-01-02 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004711964 SCV005256188 likely benign not provided criteria provided, single submitter not provided

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