ClinVar Miner

Submissions for variant NM_000687.4(AHCY):c.1168-14T>C

gnomAD frequency: 0.00588  dbSNP: rs60143059
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001520032 SCV001729026 benign Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase 2025-01-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004717800 SCV005315141 benign not provided criteria provided, single submitter not provided

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