ClinVar Miner

Submissions for variant NM_005334.3(HCFC1):c.3674T>C (p.Ile1225Thr)

dbSNP: rs2065355018
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001329391 SCV001520825 uncertain significance Methylmalonic acidemia with homocystinuria, type cblX 2020-06-03 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
CeGaT Center for Human Genetics Tuebingen RCV004584884 SCV005074990 uncertain significance not provided 2024-06-01 criteria provided, single submitter clinical testing HCFC1: PM2, BP4

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