ClinVar Miner

Submissions for variant NM_021116.4(ADCY1):c.2718+58G>A

gnomAD frequency: 0.98015  dbSNP: rs2461114
Minimum review status: Collection method:
Minimum conflict level:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001647417 SCV001856276 benign not provided 2019-03-29 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001549074 SCV001769153 benign Autosomal recessive nonsyndromic hearing loss 44 2021-07-14 criteria provided, single submitter clinical testing

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