ClinVar Miner

Submissions for variant NM_015665.6(AAAS):c.894C>T (p.Asp298=)

gnomAD frequency: 0.00003  dbSNP: rs199636211
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000316949 SCV000380172 uncertain significance Glucocorticoid deficiency with achalasia 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002056319 SCV002378659 likely benign not provided 2024-01-25 criteria provided, single submitter clinical testing

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