ClinVar Miner

Submissions for variant NM_015114.3(ANKLE2):c.1700+104G>C

dbSNP: rs10781636
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001554087 SCV001775249 benign Microcephaly 16, primary, autosomal recessive 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001694102 SCV001909136 benign not provided 2018-07-17 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001694102 SCV005237756 benign not provided criteria provided, single submitter not provided

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