ClinVar Miner

Submissions for variant NM_005334.3(HCFC1):c.1803+13C>T

gnomAD frequency: 0.00006  dbSNP: rs368179780
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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 RCV002098218 SCV002388827 benign Methylmalonic acidemia with homocystinuria, type cblX 2024-02-29 criteria provided, single submitter clinical testing

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