ClinVar Miner

Submissions for variant NM_000751.3(CHRND):c.1371+7G>T

gnomAD frequency: 0.00350  dbSNP: rs188395796
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194524 SCV000247036 benign not specified 2016-02-03 criteria provided, single submitter clinical testing
Invitae RCV000554567 SCV000641722 benign Lethal multiple pterygium syndrome 2024-01-26 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003436985 SCV004153479 benign not provided 2023-01-01 criteria provided, single submitter clinical testing CHRND: BP4, BS1, BS2

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