ClinVar Miner

Submissions for variant NM_005337.5(NCKAP1L):c.736A>C (p.Met246Leu)

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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 RCV002895882 SCV003249713 likely benign not provided 2024-01-20 criteria provided, single submitter clinical testing
Baylor Genetics RCV003147795 SCV003836138 uncertain significance Immunodeficiency 72 with autoinflammation 2022-04-04 criteria provided, single submitter clinical testing

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