ClinVar Miner

Submissions for variant NM_138295.5(PKD1L1):c.1931+22G>A

gnomAD frequency: 0.29397  dbSNP: rs11766212
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001537300 SCV001754166 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788586 SCV002029975 benign Heterotaxy, visceral, 8, autosomal 2021-09-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001537300 SCV005266510 benign not provided criteria provided, single submitter not provided

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