ClinVar Miner

Submissions for variant NM_005334.3(HCFC1):c.6042C>T (p.Asn2014=)

gnomAD frequency: 0.00030  dbSNP: rs199953428
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000153346 SCV000202830 uncertain significance not provided 2014-01-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002056033 SCV002380243 likely benign Methylmalonic acidemia with homocystinuria, type cblX 2021-11-02 criteria provided, single submitter clinical testing

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