ClinVar Miner

Submissions for variant NM_000751.3(CHRND):c.1047+17G>A

dbSNP: rs997482710
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002081441 SCV002423463 likely benign Lethal multiple pterygium syndrome 2021-11-23 criteria provided, single submitter clinical testing

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