ClinVar Miner

Submissions for variant NM_001177316.2(SLC34A3):c.560+27_561-38del

dbSNP: rs746082077
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002279709 SCV002567310 uncertain significance not provided 2022-02-22 criteria provided, single submitter clinical testing In silico analysis supports that this variant does not alter splicing; This variant is associated with the following publications: (PMID: 34666334, 22387237, 24176905, 24700880, Barton2021[preprint], 31672324)
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV001029882 SCV001192673 likely pathogenic Autosomal recessive hypophosphatemic bone disease 2019-12-02 no assertion criteria provided clinical testing

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