ClinVar Miner

Submissions for variant NM_144670.6(A2ML1):c.3397A>C (p.Asn1133His) (rs1466413438)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000677142 SCV000803139 uncertain significance Noonan syndrome 1 2018-08-03 no assertion criteria provided clinical testing The A2ML1 c.3397A>C variant was identified in a patient with a known pathogenic variant in PTPN11; phase is not known.

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