ClinVar Miner

Submissions for variant NM_005543.4(INSL3):c.305G>A (p.Arg102His)

gnomAD frequency: 0.00022  dbSNP: rs121912556
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002247347 SCV002517207 uncertain significance not specified 2022-05-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000015957 SCV002790429 uncertain significance Cryptorchidism 2021-09-20 criteria provided, single submitter clinical testing
OMIM RCV000015957 SCV000036224 pathogenic Cryptorchidism 2003-09-01 no assertion criteria provided literature only

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