ClinVar Miner

Submissions for variant NM_004787.4(SLIT2):c.1190A>G (p.Asn397Ser)

gnomAD frequency: 0.00012  dbSNP: rs200038539
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000982220 SCV001130233 likely benign not provided 2018-12-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV004030066 SCV003681073 uncertain significance not specified 2022-12-21 criteria provided, single submitter clinical testing The c.1190A>G (p.N397S) alteration is located in exon 13 (coding exon 13) of the SLIT2 gene. This alteration results from a A to G substitution at nucleotide position 1190, causing the asparagine (N) at amino acid position 397 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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