ClinVar Miner

Submissions for variant NM_152424.4(AMER1):c.790G>A (p.Ala264Thr)

gnomAD frequency: 0.00021  dbSNP: rs150929706
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001573791 SCV003264005 benign not provided 2024-12-07 criteria provided, single submitter clinical testing
ITMI RCV000120003 SCV000084133 not provided not specified 2013-09-19 no assertion provided reference population
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573791 SCV001800165 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001573791 SCV001932678 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001573791 SCV001967204 likely benign not provided no assertion criteria provided clinical testing

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