Submissions for variant NM_017654.4(SAMD9):c.3008A>G (p.Asn1003Ser)

gnomAD frequency: 0.00091  dbSNP: rs146087534

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000958358	SCV001105193	likely benign	not provided	2025-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV000958358	SCV001982725	likely benign	not provided	2020-11-09	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genetic Services Laboratory, University of Chicago	RCV001819013	SCV002066365	likely benign	not specified	2021-10-08	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002489336	SCV002801939	likely benign	Normophosphatemic familial tumoral calcinosis; MIRAGE syndrome; Monosomy 7 myelodysplasia and leukemia syndrome 2	2021-08-10	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000958358	SCV004164317	likely benign	not provided	2023-06-01	criteria provided, single submitter	clinical testing	SAMD9: BP4
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000958358	SCV001927353	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000958358	SCV001967448	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004553429	SCV004792290	likely benign	SAMD9-related disorder	2022-03-25	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).