ClinVar Miner

Submissions for variant NM_000036.3(AMPD1):c.215+10G>A

gnomAD frequency: 0.03175  dbSNP: rs6683173
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000077976 SCV000109805 benign not specified 2013-04-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001085342 SCV000755843 benign Muscle AMP deaminase deficiency 2024-01-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000676657 SCV005280460 benign not provided criteria provided, single submitter not provided
Mayo Clinic Laboratories, Mayo Clinic RCV000676657 SCV000802451 benign not provided 2016-03-15 no assertion criteria provided clinical testing

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