ClinVar Miner

Submissions for variant NM_015365.3(AMMECR1):c.502C>T (p.Arg168Ter) (rs1057519338)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics Division,Universidade Federal de Sao Paulo RCV000416320 SCV000609486 pathogenic Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis no assertion criteria provided research The patient with this variant has AMMECR1 loss of function and overlapping phenotypes with the patients described in Basel-Vanagaite et al. 2017 (PMID: 28089922) and Andreoletti et al. 2017 (PMID: 27811305).
OMIM RCV000416320 SCV000494077 pathogenic Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis 2018-01-25 no assertion criteria provided literature only

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