ClinVar Miner

Submissions for variant NM_004568.6(SERPINB6):c.431-25T>C

gnomAD frequency: 0.85550  dbSNP: rs3818276
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001609995 SCV001840037 benign not provided 2018-06-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807446 SCV002054777 benign Autosomal recessive nonsyndromic hearing loss 91 2021-07-15 criteria provided, single submitter clinical testing

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