ClinVar Miner

Submissions for variant NM_015665.6(AAAS):c.1515T>C (p.Pro505=)

gnomAD frequency: 0.00843  dbSNP: rs35282133
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000404740 SCV000380162 likely benign Glucocorticoid deficiency with achalasia 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000886860 SCV001030388 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000886860 SCV005213204 likely benign not provided criteria provided, single submitter not provided

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