ClinVar Miner

Submissions for variant NM_001281463.1(SMC1A):c.730_732AAG[2] (p.Lys246del) (rs727503773)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000157049 SCV000248988 pathogenic Congenital muscular hypertrophy-cerebral syndrome 2013-02-08 criteria provided, single submitter clinical testing
Baylor Genetics RCV000157049 SCV000747076 pathogenic Congenital muscular hypertrophy-cerebral syndrome 2018-03-08 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000626897 SCV000747600 pathogenic Global developmental delay; Hirsutism; Hypertonia; Microcephaly; Progressive sensorineural hearing impairment; Abnormality of the heart valves 2017-01-01 criteria provided, single submitter clinical testing
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000157049 SCV000195845 pathogenic Congenital muscular hypertrophy-cerebral syndrome 2014-12-02 no assertion criteria provided research

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