ClinVar Miner

Submissions for variant NM_020361.5(CPA6):c.1026C>G (p.Pro342=) (rs372964579)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000513399 SCV000609309 uncertain significance not provided 2017-03-31 criteria provided, single submitter clinical testing
Invitae RCV000513399 SCV000771725 likely benign not provided 2018-08-09 criteria provided, single submitter clinical testing

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