ClinVar Miner

Submissions for variant NM_000687.4(AHCY):c.293C>T (p.Pro98Leu)

gnomAD frequency: 0.00002  dbSNP: rs757966746
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000223995 SCV000281447 pathogenic not provided 2014-05-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV001267457 SCV001445638 likely pathogenic Inborn genetic diseases 2018-06-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005025372 SCV005661797 likely pathogenic Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase 2024-05-06 criteria provided, single submitter clinical testing

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