ClinVar Miner

Submissions for variant NM_152703.5(SAMD9L):c.3066del (p.Phe1021_Tyr1022insTer)

dbSNP: rs2116482762
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002244269 SCV002512694 uncertain significance Ataxia-pancytopenia syndrome 2021-03-02 criteria provided, single submitter clinical testing

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