ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.964A>G (p.Asn322Asp) (rs143002265)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036514 SCV000060169 likely benign not specified 2012-05-07 criteria provided, single submitter clinical testing Asn322Asp in Exon 08 of SLC26A4: This variant is not expected to have clinical s ignificance because it has been identified in 0.5% (18/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs143002265).
Counsyl RCV000674464 SCV000799804 uncertain significance Pendred syndrome 2018-05-07 criteria provided, single submitter clinical testing

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