ClinVar Miner

Submissions for variant NM_002609.4(PDGFRB):c.2463C>T (p.Asn821=) (rs78336563)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000280151 SCV000341175 benign not specified 2016-05-30 criteria provided, single submitter clinical testing
Invitae RCV000945581 SCV001091616 benign not provided 2017-08-18 criteria provided, single submitter clinical testing
Invitae RCV001514222 SCV001722017 benign Premature aging syndrome, Penttinen type; Basal ganglia calcification, idiopathic, 4; Infantile myofibromatosis; Kosaki overgrowth syndrome 2020-06-16 criteria provided, single submitter clinical testing

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