ClinVar Miner

Submissions for variant NM_015114.3(ANKLE2):c.2672G>C (p.Gly891Ala)

gnomAD frequency: 0.05652  dbSNP: rs77646743
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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 RCV001420693 SCV001623042 benign Microcephaly 16, primary, autosomal recessive 2021-05-18 criteria provided, single submitter clinical testing
GeneDx RCV001615159 SCV001841368 benign not provided 2018-07-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001615159 SCV005237742 benign not provided criteria provided, single submitter not provided

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