ClinVar Miner

Submissions for variant NM_000036.3(AMPD1):c.1224+7C>T

gnomAD frequency: 0.00139  dbSNP: rs191152112
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002121363 SCV002446623 benign Muscle AMP deaminase deficiency 2023-10-13 criteria provided, single submitter clinical testing

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