ClinVar Miner

Submissions for variant NM_015404.4(WHRN):c.1677C>T (p.Asn559=)

gnomAD frequency: 0.00005  dbSNP: rs138127153
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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, Mass General Brigham Personalized Medicine RCV000825269 SCV000966561 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing Asn559Asn in Exon 08 of DFNB31: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 1/3736 African Ameri can chromosomes from a broad population by the NHLBI Exome Sequencing Project (h ttp://evs.gs.washington.edu/EVS; dbSNP rs138127153).
Labcorp Genetics (formerly Invitae), Labcorp RCV002067411 SCV002401712 benign not provided 2023-10-16 criteria provided, single submitter clinical testing

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