ClinVar Miner

Submissions for variant NM_002834.5(PTPN11):c.959A>G (p.Asn320Ser)

gnomAD frequency: 0.00001  dbSNP: rs1398859175
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000625873 SCV000746448 likely pathogenic Noonan syndrome 2017-12-03 criteria provided, single submitter clinical testing

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