ClinVar Miner

Submissions for variant NM_017697.4(ESRP1):c.1800T>C (p.Asn600=)

gnomAD frequency: 0.48717  dbSNP: rs12677519
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001661299 SCV001876174 benign Hearing loss, autosomal recessive 109 2021-07-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004713068 SCV005264961 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003975839 SCV004799167 benign ESRP1-related disorder 2019-10-17 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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