ClinVar Miner

Submissions for variant NM_003047.5(SLC9A1):c.2031G>A (p.Glu677=)

dbSNP: rs2083146343
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Total submissions: 2
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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 RCV002244123 SCV002512416 uncertain significance Lichtenstein-Knorr syndrome 2021-08-24 criteria provided, single submitter clinical testing ACMG classification criteria: PM2, PP1
Labcorp Genetics (formerly Invitae), Labcorp RCV003093937 SCV003004159 likely benign not provided 2022-08-23 criteria provided, single submitter clinical testing

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