ClinVar Miner

Submissions for variant NM_015909.4(NBAS):c.4255del (p.Ser1419fs)

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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 RCV003148126 SCV003835910 pathogenic Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome 2022-11-28 criteria provided, single submitter clinical testing
Baylor Genetics RCV003148127 SCV003835976 pathogenic Infantile liver failure syndrome 2 2022-11-28 criteria provided, single submitter clinical testing

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