ClinVar Miner

Submissions for variant NM_000687.4(AHCY):c.767-37C>G

gnomAD frequency: 0.11434  dbSNP: rs7271501
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000532787 SCV000650493 benign Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase 2025-01-06 criteria provided, single submitter clinical testing
GeneDx RCV001683578 SCV001898892 benign not provided 2021-05-10 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 19619139)
Breakthrough Genomics, Breakthrough Genomics RCV001683578 SCV005315144 benign not provided criteria provided, single submitter not provided

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