ClinVar Miner

Submissions for variant NM_021008.4(DEAF1):c.244G>A (p.Ala82Thr)

gnomAD frequency: 0.00002  dbSNP: rs751324313
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002050699 SCV002112037 likely benign not provided 2023-12-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002545333 SCV003702783 uncertain significance Inborn genetic diseases 2022-09-30 criteria provided, single submitter clinical testing Unlikely to be causative of Vulto-van Silfout-de Vries syndrome (AD) Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV002050699 SCV005191087 uncertain significance not provided criteria provided, single submitter not provided

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