ClinVar Miner

Submissions for variant NM_000316.3(PTH1R):c.299G>A (p.Gly100Asp) (rs41290646)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000327085 SCV000444767 likely benign Chondrodysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000362244 SCV000444768 likely benign Metaphyseal chondrodysplasia 2016-06-14 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514382 SCV000610506 likely benign not provided 2017-08-10 criteria provided, single submitter clinical testing
Invitae RCV000514382 SCV001117380 benign not provided 2019-01-15 criteria provided, single submitter clinical testing

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