ClinVar Miner

Submissions for variant NM_031448.6(C19orf12):c.312C>T (p.Ala104=)

gnomAD frequency: 0.00001  dbSNP: rs749962129
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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 RCV001421551 SCV001624077 likely benign Hereditary spastic paraplegia 43 2023-07-26 criteria provided, single submitter clinical testing

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