ClinVar Miner

Submissions for variant NM_001124758.3(SPNS2):c.1443+32C>G

gnomAD frequency: 0.97077  dbSNP: rs1076071
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001617033 SCV001838417 benign not provided 2021-05-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001810141 SCV002057646 benign Hearing loss, autosomal recessive 115 2021-07-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001617033 SCV005252739 benign not provided criteria provided, single submitter not provided

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