ClinVar Miner

Submissions for variant NM_005334.3(HCFC1):c.713-13C>T

gnomAD frequency: 0.19358  dbSNP: rs59607260
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins NTD LLC (GA) RCV000178905 SCV000231081 benign not specified 2014-12-09 criteria provided, single submitter clinical testing
GeneDx RCV000178905 SCV000517677 benign not specified 2015-12-02 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001518352 SCV001727028 benign Methylmalonic acidemia with homocystinuria, type cblX 2021-12-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001518352 SCV001934098 benign Methylmalonic acidemia with homocystinuria, type cblX 2021-08-10 criteria provided, single submitter clinical testing

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