ClinVar Miner

Submissions for variant NR_003051.3(RMRP):n.-1_1ins16

dbSNP: rs1554651395
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667902 SCV000792426 likely pathogenic Metaphyseal chondrodysplasia, McKusick type 2017-06-23 criteria provided, single submitter clinical testing

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