ClinVar Miner

Submissions for variant NM_002334.4(LRP4):c.2151C>T (p.Gly717=)

gnomAD frequency: 0.00361  dbSNP: rs114920029
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000553283 SCV000644100 benign Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome 17 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001653901 SCV001871015 likely benign not provided 2021-02-06 criteria provided, single submitter clinical testing

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