ClinVar Miner

Submissions for variant NM_015922.3(NSDHL):c.387del (p.Ile129fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003148086 SCV003835817 likely pathogenic Child syndrome 2022-10-11 criteria provided, single submitter clinical testing
Baylor Genetics RCV003148087 SCV003835888 likely pathogenic CK syndrome 2022-10-11 criteria provided, single submitter clinical testing

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