ClinVar Miner

Submissions for variant NM_000036.3(AMPD1):c.636C>T (p.Asp212=)

gnomAD frequency: 0.00004  dbSNP: rs181412206
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000179245 SCV000231462 uncertain significance not provided 2014-12-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002054128 SCV002368520 likely benign Muscle AMP deaminase deficiency 2023-07-12 criteria provided, single submitter clinical testing

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