ClinVar Miner

Submissions for variant NM_005334.3(HCFC1):c.4566G>A (p.Ser1522=)

gnomAD frequency: 0.00003  dbSNP: rs371874117
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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 RCV001334385 SCV001527221 uncertain significance Methylmalonic acidemia with homocystinuria, type cblX 2018-05-14 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001334385 SCV004554657 benign Methylmalonic acidemia with homocystinuria, type cblX 2023-12-09 criteria provided, single submitter clinical testing

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