ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.891G>T (p.Glu297Asp)

dbSNP: rs1559959353
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000679940 SCV000807374 uncertain significance Autosomal dominant hypocalcemia 1 2017-09-01 criteria provided, single submitter clinical testing Likely pathogenicity based on finding it once in our laboratory de novo in a 9-year-old male with intellectual disability, regression, autism spectrum, abnormal EEG, hyperopia, esotropia, fatigue, constipation, reflux, flat feet, repetitive hand movements, unsteady gait, hypoparathyroidsim, precocious puberty.

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