ClinVar Miner

Submissions for variant NM_005334.3(HCFC1):c.1697C>T (p.Thr566Met)

dbSNP: rs1557115869
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001329390 SCV001520824 uncertain significance Methylmalonic acidemia with homocystinuria, type cblX 2020-04-15 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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